[CIS-PAGID] case

[Routes, John]

Thanks for the suggestions

Monocytes are not elevated---the ANC is low but not declining over the last
couple weeks==

the other unusual feature about the siblings death is that he was not really
ill (mild cold) and become unresponsive while in a car seat going to the
store (10-15 minute drive)---so the decline was quite precipitous---

we have thought about sending out for sequencing
the genes mentioned, but it may be cheaper to just perform whole exome
sequencing unless someone can sequence the ELANE and GFI1 for free

In the meantime, plan to perform BM  and look for anti-PMN Abs as well as
functional PMN studies---open to suggestions!


John M. Routes, MD
Chief, Section of Allergy and Clinical Immunology
Co-Director, Clinical and Translational Science Institute of Southeast WI
Professor of Pediatrics, Medicine, Microbiology and Molecular Genetics
Department of Pediatrics
Children's Hospital of Wisconsin
Medical College of Wisconsin
9000 W. Wisconsin Ave.
Milwaukee, WI  53226-4874
 
Phone: 414-456-4802; 414-266-6997
Fax: 414-456-6487 (Clinical)
Fax: 414-456-6323 (Laboratory)
Email: jroutes at mcw.edu
 




> From: "dmvascon at usp.br" <dmvascon at usp.br>

> Reply-To: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>

> Date: Fri, 6 Jan 2012 04:31:45 -0600

> To: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>

> Subject: Re: [CIS-PAGID] case

> 

> Hi Jack, good morning

> 

> What about Autosomal dominant congenital neutropenias? ELANE and GFI1

> are possible.

> How are her monocytes, are they elevated?

> In the event of decreasing neutrophil counts may be interesting to

> evaluate response to G-CSF.

> 

> All the best,

> 

> Dewton Vasconcelos

> University of São Paulo

> 

> Citando "Routes, John" <jroutes at mcw.edu>:

> 

>> Appreciate your thoughts on an difficult case.

>> 

>> 

>> We were asked to evaluate a 6 week old female with past history of  male

>> sibling who died at age 2 months from sudden "infant death syndrome".  Later

>> autopsy demonstrated few klebsiella on culture from spleen but was otherwise

>> normal.  Thymus and spleen were normal. Our patient also had a male cousin

>> who died at age 6 months of strep pneumo sepsis. No autopsy on that child.

>> No immune studies or cbcs on dead infants.

>> 

>> Our infant has a completely normal history  and physical examination.

>> So far evaluation shows-

>> CBC-Neutropenic with serial values ranging from 500s to 1100.

>> Flow--CD4-3714, CD8-1130, CD56-215, CD19 215 (low numbers of B cells,

>> everything else normal, including normal numbers of naïve T cells).

>> Normal IgG (maternal), IgA   <6 (1-40), IgM 9 (11-68).  Normal CH50,  TLR 4

>> assay-normal induction TNF.   Started on amoxicillin prophylaxis.

>> 

>> We will be getting dna from brother¹s autopsy.

>> 

>> Other  testing?  Treatment? Management long term?

>> 

>> 

>> thanks

>> Jack

>> 

>> John M. Routes, MD

>> Chief, Section of Allergy and Clinical Immunology

>> Co-Director, Clinical and Translational Science Institute of Southeast WI

>> Professor of Pediatrics, Medicine, Microbiology and Molecular Genetics

>> Department of Pediatrics

>> Children's Hospital of Wisconsin

>> Medical College of Wisconsin

>> 9000 W. Wisconsin Ave.

>> Milwaukee, WI  53226-4874

>> 

>> Phone: 414-456-4802; 414-266-6997

>> Fax: 414-456-6487 (Clinical)

>> Fax: 414-456-6323 (Laboratory)

>> Email: jroutes at mcw.edu

>> 

>> 

>> 

>> 

> 

> 

>